Defect in Dimethylglycine Dehydrogenase, a New Inborn Error of Metabolism: NMR Spectroscopy Study
نویسندگان
چکیده
منابع مشابه
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.
BACKGROUND A38-year-old man presented with a history of fish odor (since age 5) and unusual muscle fatigue with increased serum creatine kinase. Our aim was to identify the metabolic error in this new condition. METHODS We used 1H NMR spectroscopy to study serum and urine from the patient. RESULTS The concentration of N, N-dimethylglycine (DMG) was increased approximately 100-fold in the se...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1999
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/45.4.459